A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28224



Internal ID15838066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:106429473..106430219hg38UCSC Ensembl
OuterchrX:106428495..106430756hg38UCSC Ensembl
InnerchrX:105672703..105673449hg19UCSC Ensembl
OuterchrX:105671725..105673986hg19UCSC Ensembl
InnerchrX:105559359..105560105hg18UCSC Ensembl
OuterchrX:105558381..105560642hg18UCSC Ensembl
InnerchrX:105478848..105479594hg17UCSC Ensembl
OuterchrX:105477870..105480131hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg382262
hg192262
hg182262
hg172262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9963
Supporting Variants
SamplesNA18860
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv28224
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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